Linked Data
ClinVar Variation Id:
205166
dbSNP Id:
rs796052353
gnomAD v2:
15-68504177-G-C
gnomAD v3:
15-68211839-G-C
gnomAD v4:
15-68211839-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211839G>C , CM000677.2:g.68211839G>C | GRCh38 |
| NC_000015.9:g.68504177G>C , CM000677.1:g.68504177G>C | GRCh37 |
| NC_000015.8:g.66291231G>C | NCBI36 |
| NG_008764.2:g.50373C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.322C>G MANE Select | ENSP00000249806.5:p.Leu108Val | |
| ENST00000562767.2:c.84-14211C>G | ENSP00000456336.1:n.84-14211C>G | |
| ENST00000563917.2:n.164C>G | ||
| ENST00000565471.6:c.84-2080C>G | ENSP00000457384.1:n.84-2080C>G | |
| ENST00000635747.1:c.*225C>G | ENSP00000490627.1:n.*225C>G | |
| ENST00000636212.1:c.298-98C>G | ENSP00000489851.1:n.298-98C>G | |
| ENST00000636314.1:c.183-521C>G | ENSP00000490295.1:n.183-521C>G | |
| ENST00000636674.1:n.1305C>G | ||
| ENST00000636964.1:n.1494C>G | ||
| ENST00000637054.1:c.198+6697C>G | ENSP00000490807.1:n.198+6697C>G | |
| ENST00000637223.1:c.*201-521C>G | ENSP00000490010.1:n.*201-521C>G | |
| ENST00000637329.1:c.291C>G | ||
| ENST00000637450.1:c.207C>G | ENSP00000490204.1:p.Pro69= | |
| ENST00000637494.1:c.199-521C>G | ENSP00000490057.1:n.199-521C>G | |
| ENST00000637667.1:c.223C>G | ENSP00000489843.1:p.Leu75Val | |
| ENST00000637823.1:c.224-196C>G | ||
| ENST00000637888.1:c.198+6697C>G | ENSP00000490546.1:n.198+6697C>G | |
| ENST00000638076.1:c.322C>G | ENSP00000490373.1:p.Leu108Val | |
| ENST00000638144.1:n.130-521C>G | ||
| ENST00000646164.1:c.38+6697C>G | ||
| ENST00000249806.9:c.322C>G | ENSP00000249806.5:p.Leu108Val | |
| ENST00000538696.5:c.418C>G | ENSP00000445770.1:p.Leu140Val | |
| ENST00000562767.1:c.84-14211C>G | ENSP00000456336.1:n.84-14211C>G | |
| ENST00000563917.1:n.103C>G | ||
| ENST00000564752.1:c.322C>G | ENSP00000457822.1:p.Leu108Val | |
| ENST00000565471.5:c.84-2080C>G | ENSP00000457384.1:n.84-2080C>G | |
| ENST00000566347.5:c.298-521C>G | ENSP00000457783.1:n.298-521C>G | |
| ENST00000567060.5:c.298-2119C>G | ENSP00000454818.1:n.298-2119C>G | |
| NM_017882.2:c.322C>G | NP_060352.1:p.Leu108Val | |
| XR_931861.1:n.425C>G | ||
| NM_017882.3:c.322C>G MANE Select | NP_060352.1:p.Leu108Val |